Blog
About

38
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.

      Science (New York, N.Y.)

      Transcriptome, metabolism, Tibial Arteries, Sequence Analysis, RNA, genetics, RNA, Untranslated, RNA Splicing, Quantitative Trait Loci, Pilot Projects, Organ Specificity, Multigene Family, Humans, Genotype, Genome-Wide Association Study, Genome, Human, Genetic Variation, Gene Regulatory Networks, Gene Expression Regulation, GTPase-Activating Proteins, Disease, Blood Pressure, Alleles

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine. We present an analysis of RNA sequencing data from 1641 samples across 43 tissues from 175 individuals, generated as part of the pilot phase of the Genotype-Tissue Expression (GTEx) project. We describe the landscape of gene expression across tissues, catalog thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants, describe complex network relationships, and identify signals from genome-wide association studies explained by eQTLs. These findings provide a systematic understanding of the cellular and biological consequences of human genetic variation and of the heterogeneity of such effects among a diverse set of human tissues. Copyright © 2015, American Association for the Advancement of Science.

          Related collections

          Author and article information

          Journal
          10.1126/science.1262110
          4547484
          25954001

          Comments

          Comment on this article